For the past year, I have been living with the heartbreaking knowledge that my daughter, Mia, is facing a terminal illness. The prognosis was grim: a unique genetic mutation with only a handful of documented cases. The doctors suggested that she would likely not live beyond 15 months. Their advice? Cherish every moment together.
Before this devastating news, my life was filled with joy—an adorable daughter, a supportive family, and a fulfilling career. It’s astonishing how quickly everything can change. Mia was a vibrant, typical 9-month-old until she suddenly stopped crawling one day.
“She’s just tired,” I reassured myself. “It’s too hot out.” Friends and family thought I was being overly cautious, but as the weeks passed, I watched her lose essential motor skills. By 10 months, her abilities mirrored those of a 2-month-old. An MRI revealed progressive cavitating leukoencephalopathy, indicating severe damage to the white matter of her brain, which is responsible for movement. The doctors hinted at a mitochondrial disorder but withheld further details until a definitive diagnosis was made.
At 13 months, we received the official diagnosis: multiple mitochondrial dysfunction syndrome 3—a rare genetic condition with only three cases reported globally. The doctors told me that Mia’s condition would only deteriorate, predicting she would eventually lose her ability to chew and swallow, requiring a feeding tube and ultimately, a breathing tube. They expected that by around 15 months, she would be gone.
Finding Strength in Despair
In the face of such despair, I found myself asking: what do you do when you discover your child is dying? The initial reaction is raw—crying, screaming, grieving the life you envisioned for your child. You must allow yourself to feel that anguish because it will linger with you forever. Yet, in that vulnerability lies a strength you never knew you had. You will go to unimaginable lengths for your child, channeling every ounce of energy into advocating for their needs.
Parents of children with special needs, especially those facing terminal conditions, are some of the strongest individuals I have ever encountered. If you need something done, reach out to one of us. We are warriors, and we learn to value time more than ever. Each moment becomes precious, and the trivialities of life fade away. You might even find yourself developing a dark sense of humor as you navigate through grief, which, believe it or not, becomes a part of your new normal.
Every now and then, I am jolted by the reality of our situation—like seeing Mia’s empty seat in the rearview mirror while driving. It’s a stark reminder that one day, she may not be here.
Facing Financial Challenges
Financial instability is another harsh reality. Medical bankruptcy is a real concern, even for those of us in Canada. I had to rethink my career, so I started my own business to maintain flexibility while caring for Mia. The response from friends and family varied drastically: some stepped up, while others faded away. Initially hurt, I learned to focus on those who truly mattered.
Refusing to Accept the Prognosis
So, what did I specifically do for Mia? I refused to accept the doctors’ prognosis. I wouldn’t allow her to be written off. Shockingly, Mia’s experience is not unique; many families share similar stories of their children defying the odds. When I learned about mitochondrial disease, my scientific background kicked in. I researched, fought for necessary treatments, and connected with experts worldwide who study her condition.
Today, Mia is 27 months old. She has regained head control, can sit independently for short periods, and even rolls around. Her vision has improved, and she speaks in short sentences, demonstrating understanding and engagement. Her favorite phrase? “I did it!”
While hope, love, and hard work don’t guarantee survival, they offer a fighting chance when all seems lost. Mia is surrounded by a dedicated team of doctors, therapists, and family members who believe in her potential.
Choosing to Live
Instead of waiting for my daughter to die, I choose to live, laugh, and fully embrace our time together. We are living.
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Summary
Discovering your child is terminally ill is devastating, but giving up is not an option. This story chronicles the journey of a mother advocating for her daughter diagnosed with a rare genetic disorder, highlighting resilience, the advocacy for treatment, and the importance of cherishing every moment together.